Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut SFRS4 6429 broad.mit.edu 37 1 29508253 29508253 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr1:29508253C>T uc001bro.2 - 1 385 c.12G>A c.(10-12)GTG>GTA p.V4V SFRS4_uc010ofy.1_Silent_p.V4V|SFRS4_uc009vtp.2_RNA NM_005626 NP_005617 Q08170 SRSF4_HUMAN splicing factor, arginine/serine-rich 4 4 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding 0 Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151) Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138) GGCCGATGTACACCCGCGGCA 0.612 NA 5 36 0 0 0 0 GRIK3 2899 broad.mit.edu 37 1 37346378 37346378 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr1:37346378C>T uc001caz.2 - 3 542 c.407G>A c.(406-408)CGT>CAT p.R136H GRIK3_uc001cba.1_Missense_Mutation_p.R136H NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 136 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GTGCTTCCAACGCAGCTGGAT 0.622 NA 4 84 0 0 0 0 AKNAD1 254268 broad.mit.edu 37 1 109369904 109369904 + Missense_Mutation SNP T T C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr1:109369904T>C uc001dwa.2 - 11 2128 c.1859A>G c.(1858-1860)AAG>AGG p.K620R AKNAD1_uc010ovb.1_Missense_Mutation_p.K327R|AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 620 ovary(3) 3 TCCGTGGCCCTTTTTCTCCAC 0.413 NA 3 185 0 0 0 0 FCRL4 83417 broad.mit.edu 37 1 157551405 157551405 + Missense_Mutation SNP C C T rs143188744 byFrequency TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr1:157551405C>T uc001fqw.2 - 7 1301 c.1165G>A c.(1165-1167)GCC>ACC p.A389T FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 389 Helical; (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GCTCCCGCGGCGACAAGGCCA 0.572 NA 5 21 0 0 0 0 HMCN1 83872 broad.mit.edu 37 1 186106021 186106021 + Nonsense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr1:186106021C>T uc001grq.1 + 87 13763 c.13534C>T c.(13534-13536)CGA>TGA p.R4512* HMCN1_uc001grs.1_Nonsense_Mutation_p.R81* NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4512 Ig-like C2-type 44. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ATGTGTTGCTCGAAACTTAAT 0.428 NA 29 71 0 0 0 0 DEGS1 8560 broad.mit.edu 37 1 224377307 224377307 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr1:224377307G>A uc001hoj.2 + 2 222 c.111G>A c.(109-111)ATG>ATA p.M37I DEGS1_uc001hoi.2_Missense_Mutation_p.M16I NM_144780 NP_659004 O15121 DEGS1_HUMAN degenerative spermatocyte homolog 1, lipid 37 sphingolipid metabolic process|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity 0 Breast(184;0.193) GBM - Glioblastoma multiforme(131;0.00643) AGTCCTTGATGAAACCTGATC 0.313 NA 12 63 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228468013 228468013 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr1:228468013C>T uc009xez.1 + 29 7841 c.7797C>T c.(7795-7797)AAC>AAT p.N2599N OBSCN_uc001hsn.2_Silent_p.N2599N|OBSCN_uc001hsp.1_Silent_p.N298N|OBSCN_uc001hsq.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2599 Ig-like 25. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CCCTGTACAACGACAGCTTCC 0.627 NA 3 16 0 0 0 0 SAR1A 56681 broad.mit.edu 37 10 71921643 71921643 + Missense_Mutation SNP T T C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr10:71921643T>C uc010qjh.1 - 3 232 c.29A>G c.(28-30)AAT>AGT p.N10S SAR1A_uc010qji.1_Missense_Mutation_p.N10S|SAR1A_uc010qjj.1_Intron NM_001142648 NP_001136120 Q9NR31 SAR1A_HUMAN SAR1a gene homolog 1 10 ER to Golgi vesicle-mediated transport|intracellular protein transport Golgi apparatus GTP binding|GTPase activity 0 GCTGAAGCCATTGTAGATCCA 0.358 NA 4 31 0 0 0 0 EXOC6 54536 broad.mit.edu 37 10 94818062 94818062 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr10:94818062G>A uc001kig.2 + 22 2431 c.2365G>A c.(2365-2367)GTC>ATC p.V789I EXOC6_uc010qnr.1_Missense_Mutation_p.V805I|EXOC6_uc001kie.2_Missense_Mutation_p.V784I|EXOC6_uc009xub.2_Missense_Mutation_p.V788I|EXOC6_uc009xuc.2_Missense_Mutation_p.V686I|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Missense_Mutation_p.V363I|CYP26C1_uc010qns.1_5'Flank|CYP26C1_uc009xud.2_5'Flank NM_019053 NP_061926 Q8TAG9 EXOC6_HUMAN SEC15-like 1 isoform a 789 protein transport|vesicle docking involved in exocytosis exocyst skin(1) 1 Colorectal(252;0.123) GATAGAGACAGTCGTGAAACA 0.398 NA 8 43 0 0 0 0 PYROXD2 84795 broad.mit.edu 37 10 100148126 100148126 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr10:100148126C>T uc001kpc.2 - 13 1518 c.1432G>A c.(1432-1434)GCT>ACT p.A478T PYROXD2_uc001kpb.2_Intron|PYROXD2_uc001kpd.2_Intron NM_032709 NP_116098 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase 478 oxidoreductase activity central_nervous_system(1) 1 TCTGCATAAGCGTCTCTCTCC 0.612 NA 8 26 0 0 0 0 DMBT1 1755 broad.mit.edu 37 10 124339094 124339094 + Missense_Mutation SNP G G T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr10:124339094G>T uc001lgk.1 + 10 786 c.680G>T c.(679-681)GGA>GTA p.G227V DMBT1_uc001lgl.1_Missense_Mutation_p.G227V|DMBT1_uc001lgm.1_Missense_Mutation_p.G227V|DMBT1_uc009xzz.1_Missense_Mutation_p.G227V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.G79V NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 227 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCCCCTGTAGGATCTGAATCC 0.527 NA 39 391 6.2e-25 7.1e-25 1 0 DBX1 120237 broad.mit.edu 37 11 20177857 20177857 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr11:20177857G>A uc001mpw.1 - 4 1052 c.1052C>T c.(1051-1053)TCG>TTG p.S351L NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN developing brain homeobox 1 312 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GTGCGCGGGCGAGGGGGGCAG 0.701 NA 10 68 0 0 0 0 HIPK3 10114 broad.mit.edu 37 11 33308667 33308667 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr11:33308667G>A uc001mul.1 + 2 977 c.707G>A c.(706-708)CGT>CAT p.R236H HIPK3_uc001mum.1_Missense_Mutation_p.R236H|HIPK3_uc009yjv.1_Missense_Mutation_p.R236H NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 236 Protein kinase. anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 TCTTATGCCCGTCAAGGTCAA 0.398 NA 3 32 0 0 0 0 MRPL21 219927 broad.mit.edu 37 11 68658835 68658835 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr11:68658835C>T uc001ooi.2 - 7 607 c.582G>A c.(580-582)CGG>CGA p.R194R MRPL21_uc001ooh.2_Silent_p.R109R NM_181514 NP_852615 Q7Z2W9 RM21_HUMAN mitochondrial ribosomal protein L21 isoform d 194 translation mitochondrion|ribosome RNA binding|structural constituent of ribosome 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TGCTGTTTATCCGGAGGACAG 0.473 NA 12 235 0 0 0 0 GAB2 9846 broad.mit.edu 37 11 77991788 77991788 + Missense_Mutation SNP C C G TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr11:77991788C>G uc001ozh.2 - 2 235 c.235G>C c.(235-237)GAG>CAG p.E79Q GAB2_uc001ozg.2_Missense_Mutation_p.E41Q NM_080491 NP_536739 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 isoform a 79 PH. osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity ovary(5)|lung(1) 6 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) TCCTGCAGCTCCTTCTTGTTA 0.473 NA 19 136 0 0 0 0 ST14 6768 broad.mit.edu 37 11 130078332 130078332 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr11:130078332C>T uc001qfw.2 + 17 2215 c.2022C>T c.(2020-2022)GCC>GCT p.A674A NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 674 Extracellular (Potential).|Peptidase S1. A -> V (in Ref. 3; BAB20376). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) AGTGGACGGCCTTCCTGGGCT 0.662 NA 12 36 0 0 0 0 TENC1 23371 broad.mit.edu 37 12 53447568 53447568 + Missense_Mutation SNP C C A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr12:53447568C>A uc001sbp.2 + 5 407 c.272C>A c.(271-273)ACG>AAG p.T91K uc001sbk.1_Intron|TENC1_uc001sbl.2_5'UTR|TENC1_uc001sbm.2_Missense_Mutation_p.T101K|TENC1_uc001sbn.2_Missense_Mutation_p.T101K|TENC1_uc001sbo.1_Missense_Mutation_p.T91K NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 91 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 CGGCGAAACACGGCCCCAGTC 0.567 NA OREG0021855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 35 0.000978159 0.00106141 1 0 STAB2 55576 broad.mit.edu 37 12 104089380 104089380 + Missense_Mutation SNP G G C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr12:104089380G>C uc001tjw.2 + 32 3614 c.3428G>C c.(3427-3429)CGG>CCG p.R1143P NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1143 Extracellular (Potential).|FAS1 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CTGCTCATGCGGCTGGAACAG 0.502 NA 28 99 0 0 0 0 ATP8A2 51761 broad.mit.edu 37 13 26343230 26343230 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr13:26343230C>T uc001uqk.2 + 26 2573 c.2431C>T c.(2431-2433)CGG>TGG p.R811W ATP8A2_uc010tdi.1_Missense_Mutation_p.R771W|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.R361W NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 771 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GGTGAAGAAGCGGGTGAAGGC 0.537 NA 22 62 0 0 0 0 CCNA1 8900 broad.mit.edu 37 13 37011811 37011811 + Missense_Mutation SNP C C G TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr13:37011811C>G uc001uvr.3 + 3 693 c.343C>G c.(343-345)CCT>GCT p.P115A CCNA1_uc010teo.1_Missense_Mutation_p.P71A|CCNA1_uc010abq.2_Missense_Mutation_p.P71A|CCNA1_uc010abp.2_Missense_Mutation_p.P71A|CCNA1_uc001uvs.3_Missense_Mutation_p.P114A|CCNA1_uc010abr.2_RNA NM_003914 NP_003905 P78396 CCNA1_HUMAN cyclin A1 isoform a 115 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding lung(2)|skin(2)|ovary(1) 5 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) AAATGCCTTCCCTCCAGCTGG 0.478 NA 6 92 0 0 0 0 GALNTL1 57452 broad.mit.edu 37 14 69787431 69787431 + Missense_Mutation SNP A A T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr14:69787431A>T uc010aqu.1 + 2 274 c.181A>T c.(181-183)ACA>TCA p.T61S GALNTL1_uc001xla.1_Missense_Mutation_p.T61S|GALNTL1_uc001xlb.1_Missense_Mutation_p.T61S NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 61 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) ATCTCAGGTGACAGGAACTCC 0.607 NA 7 86 0 0 0 0 SYNJ2BP 55333 broad.mit.edu 37 14 70842394 70842394 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr14:70842394C>T uc001xmc.3 - 3 423 c.296G>A c.(295-297)AGG>AAG p.R99K SYNJ2BP_uc010arc.2_RNA NM_018373 NP_060843 P57105 SYJ2B_HUMAN synaptojanin 2 binding protein 99 PDZ.|Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane 0 all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377) GATACCTACCCTGTGCTGCAC 0.463 NA 22 112 0 0 0 0 TC2N 123036 broad.mit.edu 37 14 92258736 92258736 + Missense_Mutation SNP T T A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr14:92258736T>A uc001xzu.3 - 9 1213 c.1022A>T c.(1021-1023)GAT>GTT p.D341V TC2N_uc001xzt.3_Missense_Mutation_p.D341V|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Missense_Mutation_p.D341V NM_001128595 NP_001122067 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 341 nucleus upper_aerodigestive_tract(1) 1 COAD - Colon adenocarcinoma(157;0.218) TGGTGTTATATCCAAAGAGTA 0.363 NA 22 69 0 0 0 0 CHGA 1113 broad.mit.edu 37 14 93397703 93397703 + Missense_Mutation SNP C C A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr14:93397703C>A uc001ybc.3 + 6 724 c.464C>A c.(463-465)CCG>CAG p.P155Q CHGA_uc010aum.2_RNA|CHGA_uc001ybd.3_Intron NM_001275 NP_001266 P10645 CMGA_HUMAN chromogranin A precursor 155 regulation of blood pressure extracellular region|stored secretory granule skin(2) 2 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) CAGGCCCTCCCGGAGCCCATG 0.522 NA 3 36 0.004672 0.00501625 1 0 NDNL2 56160 broad.mit.edu 37 15 29561416 29561416 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr15:29561416G>A uc001zco.2 - 1 602 c.494C>T c.(493-495)GCC>GTC p.A165V FAM189A1_uc010azk.1_Intron NM_138704 NP_619649 Q96MG7 MAGG1_HUMAN necdin-like 2 165 MAGE. regulation of growth cytoplasm|nucleus 0 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CCTCATCTCGGCATCCTCCTC 0.547 NA 4 111 0 0 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40293317 40293317 + Missense_Mutation SNP C C A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr15:40293317C>A uc001zkm.1 + 21 3101 c.3051C>A c.(3049-3051)CAC>CAA p.H1017Q EIF2AK4_uc010bbj.1_Missense_Mutation_p.H718Q|EIF2AK4_uc001zkn.1_Missense_Mutation_p.H117Q|EIF2AK4_uc001zko.1_5'Flank NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 1017 translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) TGCTGCACCACACGCTGACCA 0.587 NA 6 39 3.6e-05 3.93e-05 1 0 IRX5 10265 broad.mit.edu 37 16 54966559 54966559 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr16:54966559C>T uc002ehv.2 + 2 399 c.399C>T c.(397-399)AAC>AAT p.N133N IRX5_uc010cca.1_Silent_p.N185N|IRX5_uc002ehw.2_Silent_p.N67N NM_005853 NP_005844 P78411 IRX5_HUMAN iroquois homeobox protein 5 133 Homeobox; TALE-type. response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding 0 CCTGGCTCAACGAGCACCGCA 0.627 NA 18 88 0 0 0 0 C16orf48 84080 broad.mit.edu 37 16 67700077 67700077 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr16:67700077G>A uc002etw.1 - 2 460 c.177C>T c.(175-177)ATC>ATT p.I59I C16orf48_uc002etv.1_5'Flank|C16orf48_uc010cem.1_Silent_p.I59I|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank NM_032140 NP_115516 Q9H0I2 CP048_HUMAN hypothetical protein LOC84080 59 microtubule cytoskeleton protein binding 0 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CACCGGGACCGATGCAGGGGC 0.697 NA 5 59 0 0 0 0 ZFPM1 161882 broad.mit.edu 37 16 88601287 88601287 + Missense_Mutation SNP G G C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr16:88601287G>C uc002fkv.2 + 10 2954 c.2921G>C c.(2920-2922)CGG>CCG p.R974P NM_153813 NP_722520 Q8IX07 FOG1_HUMAN zinc finger protein, multitype 1 974 C2HC-type 5. blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0478) GGCAACCACCGGTACTGCCGT 0.527 NA 7 40 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 15 63 0 0 0 0 DNAH2 146754 broad.mit.edu 37 17 7734412 7734412 + Missense_Mutation SNP C C G TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr17:7734412C>G uc002giu.1 + 79 12253 c.12239C>G c.(12238-12240)GCA>GGA p.A4080G DNAH2_uc010cnm.1_Missense_Mutation_p.A1018G NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 4080 TPR 4. ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGGTTGTCAGCACTGGAGACT 0.517 NA 4 301 0 0 0 0 KCNH4 23415 broad.mit.edu 37 17 40322231 40322231 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr17:40322231C>T uc002hzb.2 - 8 1617 c.1284G>A c.(1282-1284)GCG>GCA p.A428A NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 428 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGTACAGTGCCGCGATGTAGG 0.602 NA 15 27 0 0 0 0 OR4D1 26689 broad.mit.edu 37 17 56232955 56232955 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr17:56232955C>T uc010wno.1 + 1 441 c.441C>T c.(439-441)GCC>GCT p.A147A MSX2P1_uc002ivn.2_5'Flank NM_012374 NP_036506 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGGTAGTAGCCGCCTGGGTGG 0.532 NA 21 59 0 0 0 0 RGS9 8787 broad.mit.edu 37 17 63206625 63206625 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr17:63206625C>T uc002jfe.2 + 17 1419 c.1309C>T c.(1309-1311)CGG>TGG p.R437W RGS9_uc010dem.2_Missense_Mutation_p.R434W|RGS9_uc002jfd.2_Missense_Mutation_p.R434W|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.R208W NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 437 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 CCCTTTTATGCGGCGTCACCT 0.572 NA 4 128 0 0 0 0 PCYT2 5833 broad.mit.edu 37 17 79866789 79866789 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr17:79866789G>A uc002kcf.1 - 3 366 c.303C>T c.(301-303)ACC>ACT p.T101T PCYT2_uc010wva.1_Silent_p.T69T|PCYT2_uc010wvb.1_Silent_p.T69T|PCYT2_uc002kce.1_Silent_p.T23T|PCYT2_uc002kcg.1_Silent_p.T112T|PCYT2_uc002kch.1_Silent_p.T101T|PCYT2_uc002kci.1_Silent_p.T42T|PCYT2_uc010dii.1_Silent_p.T101T|PCYT2_uc010wvc.1_Silent_p.T23T NM_002861 NP_002852 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 101 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) ATTTGTCCAGGGTCTCTAGTG 0.587 NA 10 84 0 0 0 0 EPB41L3 23136 broad.mit.edu 37 18 5396229 5396229 + Missense_Mutation SNP T T G TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr18:5396229T>G uc002kmt.1 - 19 3030 c.2944A>C c.(2944-2946)ACC>CCC p.T982P EPB41L3_uc010wzh.1_Missense_Mutation_p.T813P|EPB41L3_uc002kmu.1_Missense_Mutation_p.T760P|EPB41L3_uc010dkq.1_Missense_Mutation_p.T651P|EPB41L3_uc002kms.1_Missense_Mutation_p.T217P|EPB41L3_uc010wze.1_Missense_Mutation_p.T287P|EPB41L3_uc010wzf.1_Missense_Mutation_p.T279P|EPB41L3_uc010wzg.1_Missense_Mutation_p.T254P|EPB41L3_uc010dkr.2_Missense_Mutation_p.T374P NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 982 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 ATGGTTTTGGTTTCGGTGTGA 0.458 NA 5 187 0 0 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561118 44561118 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr18:44561118G>A uc002lcr.1 - 1 871 c.518C>T c.(517-519)ACG>ATG p.T173M KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 173 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 AGCTGTGCGCGTTGGAGAGGC 0.687 NA 7 71 0 0 0 0 ICAM5 7087 broad.mit.edu 37 19 10404565 10404565 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr19:10404565G>A uc002mnu.3 + 7 1722 c.1657G>A c.(1657-1659)GAA>AAA p.E553K ICAM5_uc002mnv.3_Missense_Mutation_p.E428K NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5 precursor 553 Extracellular (Potential).|Ig-like C2-type 6. cell-cell adhesion integral to plasma membrane breast(3) 3 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) TTACCGCTGCGAAGCCACCAA 0.652 NA 12 42 0 0 0 0 DCAF15 90379 broad.mit.edu 37 19 14070879 14070879 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr19:14070879C>T uc002mxt.2 + 10 1530 c.1524C>T c.(1522-1524)CTC>CTT p.L508L DCAF15_uc002mxu.2_RNA NM_138353 NP_612362 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 508 central_nervous_system(1) 1 AGGGCCAGCTCCGGTGAGCGC 0.667 NA OREG0025301 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 25 0 0 0 0 CD97 976 broad.mit.edu 37 19 14517888 14517888 + Silent SNP G G A rs141170739 byFrequency TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr19:14517888G>A uc002myl.2 + 18 2346 c.2223G>A c.(2221-2223)ACG>ACA p.T741T CD97_uc002mym.2_Silent_p.T692T|CD97_uc002myn.2_Silent_p.T648T NM_078481 NP_510966 P48960 CD97_HUMAN CD97 antigen isoform 1 precursor 741 Helical; Name=6; (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(3)|breast(1) 4 TGACCATCACGGCCATCGCGC 0.637 NA 11 68 0 0 0 0 PTOV1 53635 broad.mit.edu 37 19 50357788 50357788 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr19:50357788C>T uc002pqf.1 + 2 467 c.297C>T c.(295-297)CTC>CTT p.L99L uc002ppy.3_5'Flank|PTOV1_uc010ybf.1_Silent_p.L67L|PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.L67L|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA NM_017432 NP_059128 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) GCGGCGTCCTCGAGTGGCAGG 0.672 NA 5 64 0 0 0 0 TMEM190 147744 broad.mit.edu 37 19 55889198 55889198 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr19:55889198G>A uc002qkt.1 + 4 267 c.249G>A c.(247-249)GCG>GCA p.A83A NM_139172 NP_631911 Q8WZ59 TM190_HUMAN transmembrane protein 190 precursor 83 Helical; (Potential). integral to membrane 0 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) ACATGTGGGCGCTGGTCTGGA 0.692 NA 5 64 0 0 0 0 ZNF549 256051 broad.mit.edu 37 19 58049987 58049987 + Missense_Mutation SNP A A G TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr19:58049987A>G uc002qpb.1 + 4 1864 c.1615A>G c.(1615-1617)AGC>GGC p.S539G ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.S526G NM_153263 NP_694995 Q6P9A3 ZN549_HUMAN zinc finger protein 549 539 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAAAGTCTTCAGCCACCAAAA 0.443 NA 4 56 0 0 0 0 CCDC85A 114800 broad.mit.edu 37 2 56420192 56420192 + Missense_Mutation SNP G G T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr2:56420192G>T uc002rzn.2 + 2 1359 c.857G>T c.(856-858)TGC>TTC p.C286F NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 286 His-rich. breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AAACCCTTGTGCAAGGGCAGC 0.632 NA 16 84 4.15e-12 4.73e-12 1 0 TTN 7273 broad.mit.edu 37 2 179433038 179433038 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr2:179433038C>T uc010zfg.1 - 275 70341 c.70117G>A c.(70117-70119)GTT>ATT p.V23373I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V17068I|TTN_uc010zfi.1_Missense_Mutation_p.V17001I|TTN_uc010zfj.1_Missense_Mutation_p.V16876I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24300 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTAGCAGAAACAACATCCCAT 0.383 NA 18 58 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179587178 179587178 + Missense_Mutation SNP C C A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr2:179587178C>A uc010zfg.1 - 74 18828 c.18604G>T c.(18604-18606)GCA>TCA p.A6202S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2863S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7129 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGATGGGTGCAGAGCCATTT 0.393 NA 14 69 1.58e-08 1.78e-08 1 0 NEUROD1 4760 broad.mit.edu 37 2 182542610 182542610 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr2:182542610G>A uc002uof.2 - 2 1214 c.978C>T c.(976-978)TGC>TGT p.C326C CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 326 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) TGGGGATCTCGCAGCGAGGGG 0.502 NA 10 102 0 0 0 0 SPAG16 79582 broad.mit.edu 37 2 214878680 214878680 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr2:214878680G>A uc002veq.2 + 13 1498 c.1406G>A c.(1405-1407)AGA>AAA p.R469K SPAG16_uc010fuz.1_Missense_Mutation_p.R320K|SPAG16_uc002ver.2_Missense_Mutation_p.R415K|SPAG16_uc010zjk.1_Missense_Mutation_p.R375K NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 469 WD 3. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TATAGTGAAAGATGCAGATGT 0.338 NA 10 73 0 0 0 0 UGT1A1 54658 broad.mit.edu 37 2 234669125 234669125 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr2:234669125C>T uc002vvb.2 + 1 207 c.192C>T c.(190-192)GCC>GCT p.A64A UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.A64A NM_000463 NP_000454 P22309 UD11_HUMAN UDP glycosyltransferase 1 family, polypeptide A1 64 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding central_nervous_system(1)|skin(1) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CACCTGACGCCTCGTTGTACA 0.522 NA 11 88 0 0 0 0 GDF5 8200 broad.mit.edu 37 20 34022565 34022565 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr20:34022565C>T uc010gfc.1 - 2 889 c.648G>A c.(646-648)GTG>GTA p.V216V uc002xcj.2_Missense_Mutation_p.H326Y|GDF5_uc002xck.1_Silent_p.V216V|GDF5_uc010zvc.1_Silent_p.V216V NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 216 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GCTTCCTGACCACGGGACCTC 0.612 NA 38 151 0 0 0 0 TOP2B 7155 broad.mit.edu 37 3 25639860 25639860 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr3:25639860C>T uc003cdj.2 - 36 4804 c.4804G>A c.(4804-4806)GTA>ATA p.V1602I TOP2B_uc011awm.1_Missense_Mutation_p.V459I|TOP2B_uc010hff.1_Missense_Mutation_p.V468I NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 1607 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 AAATATTTTACTTCTTTCCTA 0.403 NA 11 43 0 0 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198808 170198808 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr3:170198808C>T uc003fgz.2 - 7 1579 c.1263G>A c.(1261-1263)TTG>TTA p.L421L CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 421 Helical; (Potential). integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) AGACAGAGACCAAGGTGTAGG 0.532 NA 14 91 0 0 0 0 INTS12 57117 broad.mit.edu 37 4 106621141 106621141 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr4:106621141C>T uc003hxw.2 - 3 280 c.22G>A c.(22-24)GAA>AAA p.E8K INTS12_uc010ilr.2_Missense_Mutation_p.E8K NM_020395 NP_065128 Q96CB8 INT12_HUMAN integrator complex subunit 12 8 snRNA processing integrator complex protein binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) GGATCAAGTTCCAAGTTCACA 0.358 NA 37 85 0 0 0 0 ENPP6 133121 broad.mit.edu 37 4 185012424 185012424 + Missense_Mutation SNP A A C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr4:185012424A>C uc003iwc.2 - 8 1371 c.1229T>G c.(1228-1230)GTG>GGG p.V410G NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 410 Extracellular (Potential). lipid catabolic process extracellular region|integral to membrane|plasma membrane central_nervous_system(1) 1 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) CATGCACATCACCCTGGACCA 0.587 NA 6 76 0 0 0 0 KLKB1 3818 broad.mit.edu 37 4 187172684 187172684 + Silent SNP A A G TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr4:187172684A>G uc003iyy.2 + 9 983 c.912A>G c.(910-912)GGA>GGG p.G304G KLKB1_uc011clc.1_Silent_p.G102G|KLKB1_uc011cld.1_Silent_p.G266G NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 304 Apple 4. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) ACTTTGGAGGAGAAGAATTGA 0.373 NA 3 73 0 0 0 0 RASA1 5921 broad.mit.edu 37 5 86674234 86674234 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr5:86674234G>A uc003kiw.2 + 18 2484 c.2366G>A c.(2365-2367)CGA>CAA p.R789Q RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.R612Q|RASA1_uc011ctv.1_Missense_Mutation_p.R622Q|RASA1_uc011ctw.1_Missense_Mutation_p.R623Q|RASA1_uc010jaw.2_Missense_Mutation_p.R611Q NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 789 Ras-GAP. R -> A (in Ref. 4; AA sequence). cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) ACCCTATTTCGAGCCACAACA 0.353 NA 13 32 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 90079036 90079036 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr5:90079036G>A uc003kju.2 + 66 13423 c.13327G>A c.(13327-13329)GCC>ACC p.A4443T GPR98_uc003kjt.2_Missense_Mutation_p.A2149T|GPR98_uc003kjw.2_Missense_Mutation_p.A104T NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4443 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GAGCTCCTCTGCCAGTCCCGG 0.443 NA 27 113 0 0 0 0 PSD2 84249 broad.mit.edu 37 5 139201499 139201499 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr5:139201499G>A uc003leu.1 + 6 1324 c.1119G>A c.(1117-1119)CCG>CCA p.P373P NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 373 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCCTTCCCGCTGATGGGGG 0.587 NA 7 64 0 0 0 0 ABLIM3 22885 broad.mit.edu 37 5 148590346 148590346 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr5:148590346G>A uc003lpy.2 + 7 884 c.633G>A c.(631-633)GAG>GAA p.E211E ABLIM3_uc003lpz.1_Silent_p.E211E|ABLIM3_uc003lqa.1_Silent_p.E219E|ABLIM3_uc003lqb.2_Silent_p.E211E|ABLIM3_uc003lqc.1_Silent_p.E211E|ABLIM3_uc003lqd.1_Silent_p.E211E|ABLIM3_uc003lqf.2_Silent_p.E211E|ABLIM3_uc003lqe.1_Silent_p.E211E NM_014945 NP_055760 O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 211 LIM zinc-binding 4. axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTAAATGTGAGACTTGTGACC 0.478 NA 41 115 0 0 0 0 ATXN1 6310 broad.mit.edu 37 6 16328463 16328463 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr6:16328463C>T uc003nbt.2 - 8 1050 c.79G>A c.(79-81)GAG>AAG p.E27K ATXN1_uc010jpi.2_Missense_Mutation_p.E27K|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 27 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GCCTTCTCCTCGGAGGACCGG 0.687 NA 6 70 0 0 0 0 PRL 5617 broad.mit.edu 37 6 22294767 22294767 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr6:22294767G>A uc003ndp.2 - 2 594 c.75C>T c.(73-75)AGC>AGT p.S25S PRL_uc003ndo.2_Silent_p.S26S|PRL_uc003ndq.2_Silent_p.S25S|PRL_uc003ndr.1_RNA NM_000948 NP_000939 P01236 PRL_HUMAN prolactin precursor 25 cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding 0 Ovarian(93;0.163) AGGGGGCCACGCTCTGGCACA 0.592 NA 4 26 0 0 0 0 KAAG1 353219 broad.mit.edu 37 6 24357907 24357907 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr6:24357907G>A uc003ndz.1 + 1 777 c.40G>A c.(40-42)GTT>ATT p.V14I DCDC2_uc003ndx.2_Silent_p.N24N|DCDC2_uc003ndy.2_Silent_p.N24N NM_181337 NP_851854 Q9UBP8 KAAG1_HUMAN kidney associated antigen 1 14 immune response 0 AGGGGTCCCCGTTGCGGTACA 0.662 NA 9 59 0 0 0 0 PKHD1 5314 broad.mit.edu 37 6 51875151 51875151 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr6:51875151C>T uc003pah.1 - 35 5983 c.5707G>A c.(5707-5709)GTC>ATC p.V1903I PKHD1_uc003pai.2_Missense_Mutation_p.V1903I NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1903 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GTAATCTTGACGGTAATTGGC 0.393 NA 6 37 0 0 0 0 KIAA1919 91749 broad.mit.edu 37 6 111588141 111588141 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr6:111588141C>T uc003puv.3 + 4 1798 c.1376C>T c.(1375-1377)ACG>ATG p.T459M NM_153369 NP_699200 Q5TF39 NAGT1_HUMAN sodium-dependent glucose transporter 1 459 Cytoplasmic (Potential). carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(3) 3 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) ATGATTGAAACGAATGATACA 0.398 NA 5 50 0 0 0 0 EPDR1 54749 broad.mit.edu 37 7 37988474 37988474 + Missense_Mutation SNP G G C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr7:37988474G>C uc003tfp.2 + 2 681 c.662G>C c.(661-663)GGA>GCA p.G221A EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.G40A NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN ependymin related protein 1 precursor 101 cell-matrix adhesion extracellular region calcium ion binding upper_aerodigestive_tract(1) 1 TATAAGGATGGAGTGATGTTT 0.423 NA 4 51 0 0 0 0 ZNF716 441234 broad.mit.edu 37 7 57522286 57522286 + Missense_Mutation SNP T T C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr7:57522286T>C uc011kdi.1 + 2 272 c.160T>C c.(160-162)TCC>CCC p.S54P NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 AAACCTGGTCTCCCTGGGTGA 0.368 NA 4 64 0 0 0 0 LHFPL3 375612 broad.mit.edu 37 7 104377219 104377219 + Silent SNP T T C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr7:104377219T>C uc003vce.2 + 2 667 c.543T>C c.(541-543)CTT>CTC p.L181L LHFPL3_uc003vcf.2_Silent_p.L181L NM_199000 NP_945351 Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 167 integral to membrane 0 AGTACACTCTTGGGGCTTGCT 0.473 NA 7 25 0 0 0 0 LRRN3 54674 broad.mit.edu 37 7 110764283 110764283 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr7:110764283C>T uc003vft.3 + 4 2501 c.1455C>T c.(1453-1455)GGC>GGT p.G485G IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.G485G|LRRN3_uc003vfs.3_Silent_p.G485G NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 485 Extracellular (Potential).|Ig-like C2-type. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ATATAAATGGCGTAACTCCCA 0.408 NA 8 71 0 0 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141158 143141158 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr7:143141158C>T uc011ktg.1 + 1 613 c.613C>T c.(613-615)CCC>TCC p.P205S uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 205 Cytoplasmic (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) TTGGACAATGCCCACTGCTGT 0.448 NA 4 152 0 0 0 0 TMEM176A 55365 broad.mit.edu 37 7 150500820 150500820 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr7:150500820G>A uc003whx.1 + 5 533 c.455G>A c.(454-456)CGC>CAC p.R152H TMEM176B_uc003whw.3_5'Flank NM_018487 NP_060957 Q96HP8 T176A_HUMAN hepatocellular carcinoma-associated antigen 112 152 integral to membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGTGCCTGCCGCATCTCCAGC 0.512 NA 29 74 0 0 0 0 MLL3 58508 broad.mit.edu 37 7 151949691 151949691 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr7:151949691C>T uc003wla.2 - 10 1628 c.1409G>A c.(1408-1410)TGT>TAT p.C470Y NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 470 DHHC-type.|PHD-type 3. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ACACTTCCCACAGAAGGGACA 0.388 NA N medulloblastoma 5 26 0 0 0 0 EXTL3 2137 broad.mit.edu 37 8 28573798 28573798 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr8:28573798C>T uc003xgz.1 + 3 815 c.222C>T c.(220-222)TGC>TGT p.C74C NM_001440 NP_001431 O43909 EXTL3_HUMAN exostoses-like 3 74 Lumenal (Potential). integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding skin(2) 2 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) ACGAGCTGTGCGAGGTGAAGC 0.602 NA 12 55 0 0 0 0 UNC5D 137970 broad.mit.edu 37 8 35606140 35606140 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr8:35606140C>T uc003xjr.1 + 12 2190 c.1862C>T c.(1861-1863)CCG>CTG p.P621L UNC5D_uc003xjs.1_Missense_Mutation_p.P616L|UNC5D_uc003xju.1_Missense_Mutation_p.P197L NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 621 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTGACCATCCCGCACTGTGCA 0.493 NA 5 116 0 0 0 0 OPRK1 4986 broad.mit.edu 37 8 54141973 54141973 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr8:54141973C>T uc003xrh.1 - 3 1402 c.1027G>A c.(1027-1029)GAC>AAC p.D343N OPRK1_uc003xri.1_Missense_Mutation_p.D343N|OPRK1_uc010lyc.1_Missense_Mutation_p.D254N NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 343 Cytoplasmic (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) AAGCAGAAGTCCCGGAAACAC 0.493 NA 6 59 0 0 0 0 TOP1MT 116447 broad.mit.edu 37 8 144392336 144392336 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr8:144392336C>T uc003yxz.2 - 13 1624 c.1605G>A c.(1603-1605)GCG>GCA p.A535A TOP1MT_uc011lkd.1_Silent_p.A437A|TOP1MT_uc011lke.1_Silent_p.A437A|TOP1MT_uc010mfb.2_Silent_p.A437A|TOP1MT_uc011lkf.1_Silent_p.A330A NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 535 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) CACTCAGCTGCGCCAGCTGCT 0.642 NA 4 23 0 0 0 0 SHARPIN 81858 broad.mit.edu 37 8 145154029 145154029 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr8:145154029G>A uc003zba.2 - 7 1486 c.1002C>T c.(1000-1002)CCC>CCT p.P334P SHARPIN_uc003zbb.2_Intron NM_030974 NP_112236 Q9H0F6 SHRPN_HUMAN shank-interacting protein-like 1 334 negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway cytosol|LUBAC complex polyubiquitin binding|zinc ion binding ovary(1) 1 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGGGGCCTGGGGGTAGCCCCA 0.662 NA 3 41 0 0 0 0 GPR172A 79581 broad.mit.edu 37 8 145584283 145584283 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr8:145584283G>A uc003zcc.1 + 4 1192 c.1035G>A c.(1033-1035)CTG>CTA p.L345L FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.L345L|GPR172A_uc003zce.1_Silent_p.L345L|GPR172A_uc010mfy.1_Silent_p.L345L|GPR172A_uc003zcf.1_Silent_p.L345L|GPR172A_uc011llc.1_Silent_p.L257L NM_024531 NP_078807 Q9HAB3 RFT3_HUMAN G protein-coupled receptor 172A precursor 345 Helical; (Potential). integral to plasma membrane receptor activity|riboflavin transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) TCTCTCTGCTGGGCGTGTTCT 0.692 NA 24 112 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr9:21971186G>A uc003zpk.2 - 2 384 c.172C>T c.(172-174)CGA>TGA p.R58* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 58 ANK 2. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 4 14 0 0 0 0 KLF9 687 broad.mit.edu 37 9 73002724 73002724 + Nonsense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr9:73002724G>A uc004aht.2 - 2 1997 c.703C>T c.(703-705)CGA>TGA p.R235* NM_001206 NP_001197 Q13886 KLF9_HUMAN Kruppel-like factor 9 235 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TTTTTCGATCGCTTGATCATG 0.597 NA 14 69 0 0 0 0 PTPDC1 138639 broad.mit.edu 37 9 96863938 96863938 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr9:96863938G>A uc004auf.1 + 8 2282 c.1942G>A c.(1942-1944)GAG>AAG p.E648K PTPDC1_uc004aug.1_Missense_Mutation_p.E643K|PTPDC1_uc004auh.1_Missense_Mutation_p.E700K|PTPDC1_uc010mrj.1_Missense_Mutation_p.E702K NM_177995 NP_818931 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 648 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 GTCTTGGGTGGAGCAACTGAA 0.463 NA 14 88 0 0 0 0 ASTN2 23245 broad.mit.edu 37 9 119903652 119903652 + Missense_Mutation SNP A A G TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr9:119903652A>G uc004bjs.1 - 4 1222 c.1121T>C c.(1120-1122)CTG>CCG p.L374P ASTN2_uc004bjr.1_Missense_Mutation_p.L374P|ASTN2_uc004bjt.1_Intron NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 374 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TGTGCTGCGCAGGGGTGGTTG 0.592 NA 3 49 0 0 0 0 USP9X 8239 broad.mit.edu 37 X 41077799 41077799 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chrX:41077799G>A uc004dfb.2 + 37 7017 c.6384G>A c.(6382-6384)TTG>TTA p.L2128L USP9X_uc004dfc.2_Silent_p.L2128L NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 2128 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 ATTTTTCCTTGCAAGATGGGC 0.413 NA 37 44 0 0 0 0 OGT 8473 broad.mit.edu 37 X 70776891 70776891 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chrX:70776891C>T uc004eaa.1 + 10 1473 c.1256C>T c.(1255-1257)ACG>ATG p.T419M BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.T409M|OGT_uc004eac.2_Missense_Mutation_p.T280M|OGT_uc004ead.2_Missense_Mutation_p.T38M NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 419 TPR 11. cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) CAGTGTTATACGCGTGCCATC 0.403 NA 3 17 0 0 0 0 ATRX 546 broad.mit.edu 37 X 76937546 76937546 + Missense_Mutation SNP T T C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chrX:76937546T>C uc004ecp.3 - 9 3434 c.3202A>G c.(3202-3204)ACA>GCA p.T1068A ATRX_uc004ecq.3_Missense_Mutation_p.T1030A|ATRX_uc004eco.3_Missense_Mutation_p.T853A|ATRX_uc004ecr.2_Missense_Mutation_p.T1000A|ATRX_uc010nlx.1_Missense_Mutation_p.T1039A|ATRX_uc010nly.1_Missense_Mutation_p.T1013A NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1068 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) CCTTTCCCTGTTGACTTCTCA 0.338 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 32 151 0 0 0 0 SPTBN4 57731 broad.mit.edu 37 19 41073713 41073714 + Frame_Shift_Ins INS - - C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr19:41073713_41073714insC uc002ony.2 + 31 6567_6568 c.6481_6482insC c.(6481-6483)GCCfs p.A2161fs SPTBN4_uc002onz.2_Frame_Shift_Ins_p.A2161fs|SPTBN4_uc010egx.2_Frame_Shift_Ins_p.A904fs NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 2161 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGAGCCCCTGGCCCGCCGAGCC 0.718 NA 2 4 --- --- --- --- NA NA NA NA TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr5:156378745_156378747delTTG uc003lwh.2 - 3 512_514 c.455_457delCAA c.(454-459)ACAAGC>AGC p.T152del TIMD4_uc010jii.2_In_Frame_Del_p.T152del NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 152 Extracellular (Potential).|Thr-rich. integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 NA 7 481 --- --- --- --- NA NA NA NA CNPY3 10695 broad.mit.edu 37 6 42897358 42897360 + In_Frame_Del DEL TGC TGC - TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr6:42897358_42897360delTGC uc003ota.3 + 1 499_501 c.50_52delTGC c.(49-54)TTGCTG>TTG p.17_18LL>L CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_In_Frame_Del_p.17_18LL>L|CNPY3_uc003otc.3_5'UTR|CNPY3_uc003otb.3_5'UTR NM_006586 NP_006577 Q9BT09 CNPY3_HUMAN trinucleotide repeat containing 5 precursor 17_18 innate immune response endoplasmic reticulum ovary(1) 1 Colorectal(47;0.196) all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) CTTCTTCCCTtgctgctgctgct 0.606 NA 3 5 --- --- --- --- NA NA NA NA